Results 201 to 210 of about 19,093 (232)
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Current Opinion in Neurology, 1995
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world.
M, Rosenkilde +2 more
openaire +4 more sources
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world.
M, Rosenkilde +2 more
openaire +4 more sources
Endocrinology and Metabolism Clinics of North America, 1991
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women.
H W, Moser +3 more
openaire +2 more sources
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women.
H W, Moser +3 more
openaire +2 more sources
Archives of Neurology, 1975
Ultrastructural and neurochemical studies were done on three male patients with adrenoleukodystrophy. In each case, the affected white matter contained enlarged glial cells filled with pathognomic intracytoplasmic inclusions consisting of electron-lucent spicules bounded by 25-Angstrom wide membranes.
H, Powell +5 more
openaire +3 more sources
Ultrastructural and neurochemical studies were done on three male patients with adrenoleukodystrophy. In each case, the affected white matter contained enlarged glial cells filled with pathognomic intracytoplasmic inclusions consisting of electron-lucent spicules bounded by 25-Angstrom wide membranes.
H, Powell +5 more
openaire +3 more sources
Science Translational Medicine, 2021
Leriglitazone reduces pathologically activated microglia and protects neurons, astrocytes, and oligodendrocytes in experimental models of X-ALD. A drug candidate for X-ALD Therapies for treating the neurodegenerative disease X-linked adrenoleukodystrophy
Laura Rodríguez-Pascau +14 more
semanticscholar +1 more source
Leriglitazone reduces pathologically activated microglia and protects neurons, astrocytes, and oligodendrocytes in experimental models of X-ALD. A drug candidate for X-ALD Therapies for treating the neurodegenerative disease X-linked adrenoleukodystrophy
Laura Rodríguez-Pascau +14 more
semanticscholar +1 more source
Neuropediatrics, 1984
Clinical morphological, biochemical, radiological, and neurophysiological findings in disorders characterized by storage of very long chain fatty acids are reviewed. The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy.
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Clinical morphological, biochemical, radiological, and neurophysiological findings in disorders characterized by storage of very long chain fatty acids are reviewed. The dynamics of clinical symptomatology and neuropathological changes are different in adrenoleukodystrophy and adrenomyeloneuropathy.
openaire +2 more sources
Imaging in X-Linked Adrenoleukodystrophy
Neuropediatrics, 2021Magnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain ...
S. V. D. van de Stadt +4 more
semanticscholar +1 more source
Journal of Neuroscience Nursing, 1985
Adrenoleukodystrophy is an X-linked disorder characterized by adrenal insufficiency and progressive demyelination of the cerebral white matter. Young boys usually become symptomatic during pre- or primary school years and follow a time-variable, downhill, terminal course. Diagnostic and carrier testing and prenatal diagnosis are available.
openaire +1 more source
Adrenoleukodystrophy is an X-linked disorder characterized by adrenal insufficiency and progressive demyelination of the cerebral white matter. Young boys usually become symptomatic during pre- or primary school years and follow a time-variable, downhill, terminal course. Diagnostic and carrier testing and prenatal diagnosis are available.
openaire +1 more source
Orvosi hetilap, 1997
7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved.
R, Kálmánchey +4 more
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7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved.
R, Kálmánchey +4 more
openaire +1 more source
Annals of the New York Academy of Sciences, 1996
Aubourg, Patrick, Mandel, Jean-Louis
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Aubourg, Patrick, Mandel, Jean-Louis
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